MCDR2
MCID: MCL035
MIFTS: 26

Macular Dystrophy, Retinal, 2 (MCDR2)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 2

MalaCards integrated aliases for Macular Dystrophy, Retinal, 2:

Name: Macular Dystrophy, Retinal, 2 57 13 6
Mcdr2 57 58 72
Dystrophy, Macular, Retinal, Type 2 39
Retinal Macular Dystrophy Type 2 58
Retinal Macular Dystrophy 2 72

Characteristics:

Orphanet epidemiological data:

58
retinal macular dystrophy type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
macular dystrophy, retinal, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 608051
MeSH 44 D008268
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0339512
Orphanet 58 ORPHA319640
MedGen 41 C0339512
SNOMED-CT via HPO 68 13164000 263681008 38950008

Summaries for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot : 72 Retinal macular dystrophy 2: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.

MalaCards based summary : Macular Dystrophy, Retinal, 2, also known as mcdr2, is related to cone-rod dystrophy 2 and stargardt disease 4. An important gene associated with Macular Dystrophy, Retinal, 2 is PROM1 (Prominin 1). Affiliated tissues include eye and retina, and related phenotypes are reduced visual acuity and macular dystrophy

More information from OMIM: 608051

Related Diseases for Macular Dystrophy, Retinal, 2

Diseases in the Macular Dystrophy, Retinal, 2 family:

Macular Dystrophy, Retinal, 3

Diseases related to Macular Dystrophy, Retinal, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 9.9
2 stargardt disease 4 9.9
3 cone-rod dystrophy 12 9.9
4 stargardt disease 9.9

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 2

Human phenotypes related to Macular Dystrophy, Retinal, 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 macular dystrophy 31 HP:0007754
3 central scotoma 31 HP:0000603
4 retinal pigment epithelial atrophy 31 HP:0007722
5 dyschromatopsia 31 HP:0007641
6 perifoveal ring of hyperautofluorescence 31 HP:0030629
7 granular macular appearance 31 HP:0007793

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
dyschromatopsia
central scotomata
bilateral macular retinal pigment epithelial mottling
bilateral macular retinal pigment epithelial atrophy
bilateral red-speckled retinal pigment epithelium
more

Clinical features from OMIM®:

608051 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Dystrophy, Retinal, 2

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Retinal, 2

Genetic Tests for Macular Dystrophy, Retinal, 2

Anatomical Context for Macular Dystrophy, Retinal, 2

MalaCards organs/tissues related to Macular Dystrophy, Retinal, 2:

40
Eye, Retina

Publications for Macular Dystrophy, Retinal, 2

Articles related to Macular Dystrophy, Retinal, 2:

# Title Authors PMID Year
1
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 61 57 6
12657606 2003
2
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 57 6
20393116 2010
3
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 6 57
18654668 2008
4
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 57 6
10205271 1999
5
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. 57
20859302 2011
6
Genetic linkage studies of a North Carolina macular dystrophy family. 61
27496188 2016
7
Innate immune network in the retina activated by optic nerve crush. 61
23493296 2013

Variations for Macular Dystrophy, Retinal, 2

ClinVar genetic disease variations for Macular Dystrophy, Retinal, 2:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) SNV Pathogenic 5610 rs137853006 GRCh37: 4:16014922-16014922
GRCh38: 4:16013299-16013299
2 PROM1 NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) SNV Uncertain significance 347972 rs201910962 GRCh37: 4:15981049-15981049
GRCh38: 4:15979426-15979426
3 PROM1 NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) SNV Uncertain significance 348001 rs369815021 GRCh37: 4:16025002-16025002
GRCh38: 4:16023379-16023379
4 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
5 PROM1 NM_006017.3(PROM1):c.1344C>T (p.Ile448=) SNV Uncertain significance 347993 rs147174580 GRCh37: 4:16008271-16008271
GRCh38: 4:16006648-16006648
6 PROM1 NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) SNV Uncertain significance 425331 rs761911901 GRCh37: 4:15992882-15992882
GRCh38: 4:15991259-15991259
7 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
8 PROM1 NM_006017.3(PROM1):c.1301+11C>A SNV Uncertain significance 899993 GRCh37: 4:16010561-16010561
GRCh38: 4:16008938-16008938
9 PROM1 NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) SNV Uncertain significance 903654 GRCh37: 4:16010678-16010678
GRCh38: 4:16009055-16009055
10 PROM1 NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) SNV Uncertain significance 842166 GRCh37: 4:16010721-16010721
GRCh38: 4:16009098-16009098
11 PROM1 NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) SNV Uncertain significance 347979 rs202029748 GRCh37: 4:15985975-15985975
GRCh38: 4:15984352-15984352
12 PROM1 NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV Uncertain significance 809628 rs376198840 GRCh37: 4:16025935-16025935
GRCh38: 4:16024312-16024312
13 PROM1 NM_006017.3(PROM1):c.1738A>C (p.Asn580His) SNV Uncertain significance 899856 GRCh37: 4:15995639-15995639
GRCh38: 4:15994016-15994016
14 PROM1 NM_006017.3(PROM1):c.2281-5C>G SNV Uncertain significance 347980 rs777654968 GRCh37: 4:15985983-15985983
GRCh38: 4:15984360-15984360
15 PROM1 NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) SNV Uncertain significance 287074 rs62617075 GRCh37: 4:15992900-15992900
GRCh38: 4:15991277-15991277
16 PROM1 NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV Uncertain significance 236524 rs753308387 GRCh37: 4:16000058-16000058
GRCh38: 4:15998435-15998435
17 PROM1 NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV Uncertain significance 901286 GRCh37: 4:16025027-16025027
GRCh38: 4:16023404-16023404
18 PROM1 NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) SNV Uncertain significance 347990 rs201870277 GRCh37: 4:16002121-16002121
GRCh38: 4:16000498-16000498
19 PROM1 NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) SNV Uncertain significance 899918 GRCh37: 4:16002229-16002229
GRCh38: 4:16000606-16000606
20 PROM1 NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) SNV Uncertain significance 391392 rs140682455 GRCh37: 4:16010674-16010674
GRCh38: 4:16009051-16009051
21 PROM1 NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) SNV Uncertain significance 864624 GRCh37: 4:16017830-16017830
GRCh38: 4:16016207-16016207
22 PROM1 NM_006017.3(PROM1):c.376G>A (p.Val126Met) SNV Uncertain significance 901350 GRCh37: 4:16035060-16035060
GRCh38: 4:16033437-16033437
23 PROM1 NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) SNV Uncertain significance 348002 rs752543587 GRCh37: 4:16025015-16025015
GRCh38: 4:16023392-16023392
24 PROM1 NM_006017.3(PROM1):c.1911+8G>A SNV Uncertain significance 636187 rs370302107 GRCh37: 4:15993863-15993863
GRCh38: 4:15992240-15992240
25 PROM1 NM_006017.3(PROM1):c.1578+9G>C SNV Uncertain significance 347989 rs747638667 GRCh37: 4:16002110-16002110
GRCh38: 4:16000487-16000487
26 PROM1 NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) SNV Uncertain significance 347994 rs200710798 GRCh37: 4:16010594-16010594
GRCh38: 4:16008971-16008971
27 PROM1 NM_006017.3(PROM1):c.717C>T (p.Gly239=) SNV Uncertain significance 348003 rs763697898 GRCh37: 4:16025016-16025016
GRCh38: 4:16023393-16023393
28 PROM1 NM_006017.3(PROM1):c.105A>G (p.Glu35=) SNV Uncertain significance 348011 rs886059205 GRCh37: 4:16077425-16077425
GRCh38: 4:16075802-16075802
29 PROM1 NM_006017.3(PROM1):c.2364C>T (p.Ile788=) SNV Uncertain significance 347977 rs551849678 GRCh37: 4:15985895-15985895
GRCh38: 4:15984272-15984272
30 PROM1 NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) SNV Uncertain significance 347995 rs886059202 GRCh37: 4:16010602-16010602
GRCh38: 4:16008979-16008979
31 PROM1 NM_006017.3(PROM1):c.-127A>G SNV Uncertain significance 348014 rs886059206 GRCh37: 4:16077656-16077656
GRCh38: 4:16076033-16076033
32 PROM1 NM_006017.3(PROM1):c.1377C>T (p.Gly459=) SNV Uncertain significance 347992 rs779072238 GRCh37: 4:16008238-16008238
GRCh38: 4:16006615-16006615
33 PROM1 NM_006017.3(PROM1):c.276+15G>T SNV Uncertain significance 348008 rs766012920 GRCh37: 4:16040554-16040554
GRCh38: 4:16038931-16038931
34 PROM1 NM_006017.3(PROM1):c.1218C>G (p.Leu406=) SNV Uncertain significance 347996 rs886059203 GRCh37: 4:16010655-16010655
GRCh38: 4:16009032-16009032
35 PROM1 NM_006017.3(PROM1):c.843C>T (p.His281=) SNV Uncertain significance 347998 rs374394451 GRCh37: 4:16020105-16020105
GRCh38: 4:16018482-16018482
36 PROM1 NM_006017.3(PROM1):c.181A>G (p.Ile61Val) SNV Uncertain significance 348009 rs201701647 GRCh37: 4:16077349-16077349
GRCh38: 4:16075726-16075726
37 PROM1 NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) SNV Uncertain significance 347985 rs886059200 GRCh37: 4:15993911-15993911
GRCh38: 4:15992288-15992288
38 PROM1 NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 348010 rs778896066 GRCh37: 4:16077375-16077375
GRCh38: 4:16075752-16075752
39 PROM1 NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) SNV Uncertain significance 347997 rs202041422 GRCh37: 4:16019985-16019985
GRCh38: 4:16018362-16018362
40 PROM1 NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) SNV Uncertain significance 347974 rs886059198 GRCh37: 4:15982054-15982054
GRCh38: 4:15980431-15980431
41 PROM1 NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) SNV Uncertain significance 347973 rs534529507 GRCh37: 4:15981509-15981509
GRCh38: 4:15979886-15979886
42 PROM1 NM_006017.3(PROM1):c.2373+13C>G SNV Uncertain significance 347976 rs886059199 GRCh37: 4:15985873-15985873
GRCh38: 4:15984250-15984250
43 PROM1 NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) SNV Uncertain significance 347991 rs200520976 GRCh37: 4:16002206-16002206
GRCh38: 4:16000583-16000583
44 PROM1 NM_006017.3(PROM1):c.-168G>A SNV Uncertain significance 348016 rs180926533 GRCh37: 4:16077697-16077697
GRCh38: 4:16076074-16076074
45 PROM1 NM_006017.3(PROM1):c.*963A>G SNV Uncertain significance 347966 rs886059196 GRCh37: 4:15970053-15970053
GRCh38: 4:15968430-15968430
46 PROM1 NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) SNV Uncertain significance 348006 rs369512467 GRCh37: 4:16026889-16026889
GRCh38: 4:16025266-16025266
47 PROM1 NM_006017.3(PROM1):c.2211+7C>T SNV Uncertain significance 347981 rs372262346 GRCh37: 4:15987573-15987573
GRCh38: 4:15985950-15985950
48 PROM1 NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) SNV Uncertain significance 347971 rs747844753 GRCh37: 4:15981022-15981022
GRCh38: 4:15979399-15979399
49 PROM1 NM_006017.3(PROM1):c.*1160A>G SNV Uncertain significance 347962 rs886059194 GRCh37: 4:15969856-15969856
GRCh38: 4:15968233-15968233
50 PROM1 NM_006017.3(PROM1):c.277-15C>T SNV Uncertain significance 348007 rs372599685 GRCh37: 4:16037399-16037399
GRCh38: 4:16035776-16035776

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Retinal, 2:

72
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

Expression for Macular Dystrophy, Retinal, 2

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 2.

Pathways for Macular Dystrophy, Retinal, 2

GO Terms for Macular Dystrophy, Retinal, 2

Sources for Macular Dystrophy, Retinal, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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